MCTD
MCID: MXD005
MIFTS: 65

Mixed Connective Tissue Disease (MCTD)

Categories: Bone diseases, Cardiovascular diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Mixed Connective Tissue Disease

MalaCards integrated aliases for Mixed Connective Tissue Disease:

Name: Mixed Connective Tissue Disease 12 76 53 59 37 55 44 15 73
Sharp Syndrome 53 59
Mctd 53 59
Connective Tissue Disease Overlap Syndrome 12
Mixed Collagen Vascular Disease 12

Characteristics:

Orphanet epidemiological data:

59
mixed connective tissue disease
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Japan); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:



Summaries for Mixed Connective Tissue Disease

NIH Rare Diseases : 53 Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. Treatment may include medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immune-suppressing drugs to help manage symptoms.

MalaCards based summary : Mixed Connective Tissue Disease, also known as sharp syndrome, is related to scleroderma, familial progressive and pneumonia. An important gene associated with Mixed Connective Tissue Disease is RNPC3 (RNA Binding Region (RNP1, RRM) Containing 3), and among its related pathways/superpathways are Allograft rejection and Immune response NFAT in immune response. The drugs Cilostazol and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and heart, and related phenotypes are seizures and arthritis

Disease Ontology : 12 A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.

Wikipedia : 76 Mixed connective tissue disease (also known as Sharp''s syndrome), commonly abbreviated as MCTD, is an... more...

Related Diseases for Mixed Connective Tissue Disease

Diseases related to Mixed Connective Tissue Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 398)
# Related Disease Score Top Affiliating Genes
1 scleroderma, familial progressive 31.1 APOH RNPC3
2 pneumonia 30.5 IL10 IL6 TNF
3 arthritis 30.3 HLA-DRB1 IFNG IL10 IL6 TNF
4 meningitis 30.3 IFNG IL10 IL6 TNF
5 aseptic meningitis 30.3 IFNG IL10 TNF
6 interstitial lung disease 30.3 IFNG IL10 IL6 TNF
7 myelitis 30.2 APOH IL6 TNF
8 rheumatoid arthritis 30.2 HLA-DRB1 IFNG IL10 IL6 TNF
9 purpura 30.1 ADAMTS13 APOH IL6 TNF
10 lymphadenitis 30.1 IFNG IL10 TNF
11 pulmonary venoocclusive disease 30.1 ACVRL1 BMPR2
12 connective tissue disease 30.0 ACVRL1 ADAMTS13 APOH BMPR2 HLA-DRB1 HSPD1
13 transverse myelitis 30.0 APOH IL10 IL6 TNF
14 pericarditis 30.0 IFNG IL6 TNF
15 microscopic polyangiitis 30.0 HLA-DRB1 IL10 TNF
16 anca-associated vasculitis 29.9 HLA-DRB1 IL6 TNF
17 spondyloarthropathy 29.9 IFNG IL10 IL6 TNF
18 hemophagocytic lymphohistiocytosis 29.9 IFNG IL10 TNF
19 gastroenteritis 29.8 IL10 IL6 TNF
20 discoid lupus erythematosus 29.8 APOH HLA-DRB1 IL10
21 polyradiculoneuropathy 29.8 HLA-DRB1 IFNG IL10
22 systemic lupus erythematosus 29.8 ADAMTS13 APOH HLA-DRB1 IFNG IL10 IL6
23 visceral leishmaniasis 29.7 IFNG IL10 TNF
24 myasthenia gravis 29.7 IFNG IL10 TNF
25 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.7 HSPD1 IFNG IL10
26 psoriasis 29.7 IFNG IL10 IL6 TNF
27 viral infectious disease 29.6 IFNG IL10 IL6 TNF
28 leishmaniasis 29.5 HLA-DRB1 IFNG IL10 IL6 TNF
29 rheumatic disease 29.5 APOH HLA-DRB1 IFNG IL10 RNPC3 TNF
30 diabetes mellitus 29.4 HLA-DRB1 HSPD1 IFNG IL6 TNF
31 vascular disease 29.3 ACVRL1 APOH BMPR2 HSPD1 IL6 TNF
32 autoimmune disease 29.3 APOH HLA-DRB1 HSPD1 IFNG IL10 IL6
33 lupus erythematosus 10.7
34 pulmonary hypertension 10.6
35 pulmonary hypertension, primary, 1 10.3
36 hepatitis 10.3
37 vasculitis 10.3
38 glomerulonephritis 10.3
39 actinic prurigo 10.3 HLA-DRB1 TNF
40 lung disease 10.3
41 neuropathy 10.3
42 tungiasis 10.3 IL10 TNF
43 cow milk allergy 10.3 IL10 TNF
44 choroiditis 10.3 IL10 TNF
45 trichuriasis 10.3 IL10 TNF
46 transient hypogammaglobulinemia 10.3 IL10 TNF
47 mucocutaneous leishmaniasis 10.3 IL10 TNF
48 idiopathic achalasia 10.3 IL10 TNF
49 multifocal choroiditis 10.3 IL10 TNF
50 funisitis 10.3 IL10 IL6

Graphical network of the top 20 diseases related to Mixed Connective Tissue Disease:



Diseases related to Mixed Connective Tissue Disease

Symptoms & Phenotypes for Mixed Connective Tissue Disease

Human phenotypes related to Mixed Connective Tissue Disease:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
3 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
4 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
5 aseptic necrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010885
6 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
7 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
8 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
9 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
10 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
11 joint swelling 59 32 frequent (33%) Frequent (79-30%) HP:0001386
12 pulmonary fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002206
13 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
14 dyspnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002094
15 hemolytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001878
16 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
17 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
18 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
19 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
20 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
21 keratoconjunctivitis sicca 59 32 frequent (33%) Frequent (79-30%) HP:0001097
22 psychosis 59 32 frequent (33%) Frequent (79-30%) HP:0000709
23 xerostomia 59 32 frequent (33%) Frequent (79-30%) HP:0000217
24 purpura 59 32 occasional (7.5%) Occasional (29-5%) HP:0000979
25 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
26 chest pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0100749
27 pericarditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001701
28 myocarditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012819
29 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
30 meningitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001287
31 prolonged bleeding time 59 32 occasional (7.5%) Occasional (29-5%) HP:0003010
32 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
33 mediastinal lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100721
34 myositis 59 32 frequent (33%) Frequent (79-30%) HP:0100614
35 leukopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001882
36 pleuritis 59 32 frequent (33%) Frequent (79-30%) HP:0002102
37 interstitial pulmonary abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0006530
38 elevated erythrocyte sedimentation rate 59 32 hallmark (90%) Very frequent (99-80%) HP:0003565
39 scleroderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100324
40 gastritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005263
41 lymphadenopathy 59 Occasional (29-5%)

GenomeRNAi Phenotypes related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.78 IL10
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.78 BMPR2 IL10
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.78 HLA-DRB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.78 IL10
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.78 HLA-DRB1 IL10
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.78 IL10
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.78 HLA-DRB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.78 IL10
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.78 IL10
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.78 HLA-DRB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.78 HLA-DRB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.78 HLA-DRB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.78 HLA-DRB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.78 IL10
15 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.78 IL10
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 IL10
17 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.78 BMPR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.78 IL10
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.78 BMPR2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.78 IL10
21 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.78 IL10
22 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.78 BMPR2 HLA-DRB1 IL10
23 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.78 IL10
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.78 BMPR2 IL10

MGI Mouse Phenotypes related to Mixed Connective Tissue Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.92 ACVRL1 ADAMTS13 BMPR2 HSPG2 IFNG IL10
2 embryo MP:0005380 9.91 ACVRL1 BMPR2 HSPD1 HSPG2 IFNG IL10
3 digestive/alimentary MP:0005381 9.88 ACVRL1 HSPG2 IFNG IL10 IL6 TNF
4 mortality/aging MP:0010768 9.85 ACVRL1 ADAMTS13 APOH BMPR2 HSPD1 HSPG2
5 liver/biliary system MP:0005370 9.73 ACVRL1 HSPG2 IFNG IL10 IL6 TNF
6 muscle MP:0005369 9.56 ACVRL1 BMPR2 HSPD1 HSPG2 IFNG IL10
7 respiratory system MP:0005388 9.17 ACVRL1 BMPR2 HSPG2 IFNG IL10 IL6

Drugs & Therapeutics for Mixed Connective Tissue Disease

Drugs for Mixed Connective Tissue Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
2 Immunologic Factors Phase 4,Phase 2,Phase 3,Not Applicable
3 Vaccines Phase 4,Not Applicable
4 Vasodilator Agents Phase 4
5 Peripheral Nervous System Agents Phase 4
6 Protective Agents Phase 4,Phase 2,Phase 3
7 Respiratory System Agents Phase 4,Phase 2,Phase 3
8 Platelet Aggregation Inhibitors Phase 4
9 Bronchodilator Agents Phase 4
10 Phosphodiesterase Inhibitors Phase 4
11 Fibrinolytic Agents Phase 4
12 Phosphodiesterase 3 Inhibitors Phase 4
13 Autonomic Agents Phase 4
14 Anti-Asthmatic Agents Phase 4
15 Neuroprotective Agents Phase 4
16
Alendronate Approved Phase 2, Phase 3 66376-36-1, 121268-17-5 2088
17
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
18
rituximab Approved Phase 2, Phase 3 174722-31-7 10201696
19
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
20 Bone Density Conservation Agents Phase 2, Phase 3
21 glucocorticoids Phase 2, Phase 3
22 Antirheumatic Agents Phase 2, Phase 3
23 Antineoplastic Agents, Alkylating Phase 2, Phase 3
24 Alkylating Agents Phase 2, Phase 3
25 Immunosuppressive Agents Phase 2, Phase 3
26 Antiviral Agents Phase 2, Phase 3
27 Anti-Infective Agents Phase 2, Phase 3
28 Antioxidants Phase 2, Phase 3
29 Expectorants Phase 2, Phase 3
30 N-monoacetylcystine Phase 2, Phase 3
31 Antidotes Phase 2, Phase 3
32 Free Radical Scavengers Phase 2, Phase 3
33 Antibodies Not Applicable
34 Immunoglobulins Not Applicable
35 Autoantibodies Not Applicable

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
2 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud’s Phenomenon Completed NCT00048776 Phase 4 Pletal
3 Alendronate Osteoporosis Study Completed NCT00277251 Phase 2, Phase 3 Alendronate
4 Rituximab Versus Cyclophosphamide in Connective Tissue Disease-ILD Recruiting NCT01862926 Phase 2, Phase 3 Rituximab;Cyclophosphamide
5 A Clinical Trial for CTD-ILD Treatment Terminated NCT01424033 Phase 2, Phase 3 N-Acetylcysteine
6 Safety and Efficacy of Adipose Derived Stem Cells in Refractory Rheumatoid Arthritis, Systemic Lupus Erythematosus or Sharp's Syndrome Terminated NCT02741362 Phase 1
7 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752 Not Applicable
8 Auto-immunity and Pulmonary Arterial Hypertension Completed NCT01208792 Not Applicable
9 CLUE Study: Connective Tissue Disease Leg Ulcer Etiology Study Completed NCT00522002
10 The CARRA Registry Completed NCT01697254
11 Descriptive, Post-marketing, Passive Surveillance Safety Study of ADACEL™ Vaccine Completed NCT00258882
12 Characteristics and Disease Progression of Mixed Connective Tissue Disease and Systemic Lupus Erythematosus Recruiting NCT00582881
13 New Orleans Pulmonary Hypertension Biobank Recruiting NCT03269630
14 Yellow Fever Vaccine in Patients With Rheumatic Diseases Recruiting NCT03430388 Not Applicable
15 Atherosclerosis in Juvenile Mixed Connective Tissue Disease (ACTID) Active, not recruiting NCT03581162
16 Coronary Artery and Systemic Autoimmune Disease: Diagnostics and Treatment Active, not recruiting NCT02510092 Not Applicable

Search NIH Clinical Center for Mixed Connective Tissue Disease

Cochrane evidence based reviews: mixed connective tissue disease

Genetic Tests for Mixed Connective Tissue Disease

Anatomical Context for Mixed Connective Tissue Disease

MalaCards organs/tissues related to Mixed Connective Tissue Disease:

41
Lung, Skin, Heart, Kidney, T Cells, Bone, B Cells

Publications for Mixed Connective Tissue Disease

Articles related to Mixed Connective Tissue Disease:

(show top 50) (show all 729)
# Title Authors Year
1
Facts in treatment of pulmonary arterial hypertension associated to mixed connective tissue disease. ( 29685309 )
2018
2
Progression and mortality of interstitial lung disease in mixed connective tissue disease: a long-term observational nationwide cohort study. ( 28379478 )
2018
3
Interstitial lung disease in patients with mixed connective tissue disease: pilot study on predictors of lung involvement. ( 29745875 )
2018
4
The impact of anti-U1-RNP positivity: systemic lupus erythematosus versus mixed connective tissue disease. ( 29796907 )
2018
5
Superior sagittal sinus thrombosis in a case of Mixed Connective Tissue Disease. ( 29848537 )
2018
6
Myocarditis in a girl with mixed connective tissue disease. ( 29624816 )
2018
7
Massive Hemorrhagic Pericardial Effusion With Cardiac Tamponade as Initial Manifestation of Mixed Connective Tissue Disease. ( 29479391 )
2018
8
Musculoskeletal Manifestations of Non-RA Connective Tissue Diseases: Scleroderma, Systemic Lupus Erythematosus, Still's Disease, Dermatomyositis/Polymyositis, SjAPgren's Syndrome, and Mixed Connective Tissue Disease. ( 29672805 )
2018
9
Advocating for early interstitial lung disease detection in mixed connective tissue disease. ( 28977485 )
2018
10
Lymphocytic interstitial pneumonia in a patient with mixed connective tissue disease - A case report. ( 29892541 )
2018
11
Following leads: connecting dysphagia to mixed connective tissue disease. ( 29507032 )
2018
12
Acroosteolysis in a patient with systemic lupus erythematosus/mixed connective tissue disease. ( 30184147 )
2018
13
Acroosteolysis in a patient with systemic lupus erythematosus/mixed connective tissue disease. ( 30312455 )
2018
14
Prevalence of pulmonary hypertension in patients with systemic sclerosis and mixed connective tissue disease. ( 29995796 )
2018
15
Systemic Lupus Erythematosus, Sjögren Syndrome, and Mixed Connective Tissue Disease in Children and Adolescents. ( 30031495 )
2018
16
Pulmonary Manifestations and Progression of Lung Disease in Juvenile-onset Mixed Connective Tissue Disease. ( 30068767 )
2018
17
Management of multiple neurological complications in mixed connective tissue disease: A case report. ( 30075502 )
2018
18
Devic's syndrome and mixed connective tissue disease: an unusual association. ( 30091958 )
2018
19
Radiological images of interstitial pneumonia in mixed connective tissue disease compared with scleroderma and polymyositis/dermatomyositis. ( 30292269 )
2018
20
Comparison of articular manifestations of mixed connective tissue disease and systemic lupus erythematosus on clinical examination and musculoskeletal ultrasound. ( 30304980 )
2018
21
Clinical and immunological profile in patients with mixed connective tissue disease. ( 30323370 )
2018
22
Mixed connective tissue disease: state of the art on clinical practice guidelines. ( 30402271 )
2018
23
Mixed connective tissue disease complicated by heart failure in Ile-Ife, Nigeria: management challenges in a resource-limited economy. ( 30464652 )
2018
24
Mixed connective tissue disease in young Saudi patient with recurrent dental abscess: A case report. ( 30534045 )
2018
25
Scleroderma Renal Crisis in Mixed Connective Tissue Disease With Full Renal Recovery Within 3 Months: A Case Report With Expanding Treatment Modalities to Treat Each Clinical Sign as an Independent Entity. ( 29051891 )
2017
26
An unusual association between hemophagocytic lymphohistiocytosis, mixed connective tissue disease, and autoimmune hemolytic anemia: A case report. ( 28700492 )
2017
27
Emergence of Smoldering ANCA-associated Glomerulonephritis During the Clinical Course of Mixed Connective Tissue Disease and SjAPgren's Syndrome. ( 29269683 )
2017
28
Treatment of Vasodilator-resistant Mixed Connective Tissue Disease-associated Pulmonary Arterial Hypertension with Glucocorticoid and Cyclophosphamide. ( 28202869 )
2017
29
Facts and controversies in mixed connective tissue disease. ( 28864092 )
2017
30
BentallA9s Procedure in Pediatric Mixed Connective Tissue Disease Syndrome: Management of Pediatric Aortic Aneurysm - A Brief Review. ( 29762936 )
2017
31
Successful treatment of Type B insulin resistance with mixed connective tissue disease by pulse glucocorticoids and cyclophosphamide. ( 28084020 )
2017
32
Serum KL-6 and surfactant protein-D as monitoring and predictive markers of interstitial lung disease in patients with systemic sclerosis and mixed connective tissue disease. ( 28275485 )
2017
33
Protein-losing Gastroenteropathy Related to Mixed Connective Tissue Disease: A Case Report of a Successful Outcome and Literature Review. ( 28768981 )
2017
34
Pulmonary-Limited Granulomatosis with Polyangiitis Coexisting with Mixed Connective Tissue Disease. ( 28592713 )
2017
35
Retinal Vasculitis and Choroidopathy in Pediatric-Onset Mixed Connective Tissue Disease. ( 28937479 )
2017
36
Major depression: An under reported neuropsychiatric manifestation of Mixed Connective Tissue Disease. ( 28753451 )
2017
37
Mixed Connective Tissue Disease and Epitope Spreading: An Historical Cohort Study. ( 28248800 )
2017
38
Disease evolution in mixed connective tissue disease: results from a long-term nationwide prospective cohort study. ( 29268795 )
2017
39
Prevalence of mixed connective tissue disease in a population-based registry of American Indian/Alaska Native people in 2007. ( 27788293 )
2016
40
Immunity and early atherosclerosis in the course of systemic lupus erythematosus, mixed connective tissue disease and antiphospholipid syndrome. ( 27826173 )
2016
41
A case of mixed connective tissue disease. ( 27728674 )
2016
42
Intravenous Immunoglobulin for Mixed Connective Tissue Disease Presenting With Bilateral Trigeminal Neuropathy. ( 28079540 )
2016
43
Adhesive arachnoiditis in mixed connective tissue disease: a rare neurological manifestation. ( 27986694 )
2016
44
Mixed connective tissue disease with bilateral erythematous palpebral oedema and targetoid skin lesions. ( 27694069 )
2016
45
Initial presentation and outcome of pediatric-onset mixed connective tissue disease: A French multicenter retrospective study. ( 26677987 )
2016
46
Mixed connective tissue disease-enigma variations? ( 27436003 )
2016
47
Tocilizumab in the treatment of mixed connective tissue disease and overlap syndrome in children. ( 27738519 )
2016
48
The illness experience of youth with lupus/mixed connective tissue disease: a mixed methods analysis of patient and parent perspectives. ( 27125290 )
2016
49
Mixed connective tissue disease. ( 27421219 )
2016
50
A case of idiopathic portal hypertension associated with nodular regenerative hyperplasia-like nodule of the liver and mixed connective tissue disease. ( 27151480 )
2016

Variations for Mixed Connective Tissue Disease

Expression for Mixed Connective Tissue Disease

Search GEO for disease gene expression data for Mixed Connective Tissue Disease.

Pathways for Mixed Connective Tissue Disease

Pathways related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 HLA-DRB1 HSPD1 IFNG IL10 IL6 TNF
2
Show member pathways
12.52 HLA-DRB1 IFNG IL10 TNF
3
Show member pathways
12.48 IFNG IL10 IL6 TNF
4
Show member pathways
12.46 HLA-DRB1 IFNG IL10 IL6 TNF
5
Show member pathways
12.33 IFNG IL10 IL6 TNF
6
Show member pathways
12.21 HSPG2 IFNG IL6 TNF
7
Show member pathways
12.16 IFNG IL10 IL6 TNF
8
Show member pathways
12.15 HLA-DRB1 IFNG IL10 TNF
9 12.07 HSPD1 IL10 IL6 TNF
10 11.99 BMPR2 IFNG TNF
11
Show member pathways
11.93 IFNG IL10 IL6 TNF
12 11.91 IFNG IL6 TNF
13 11.88 IL10 IL6 TNF
14 11.84 IFNG IL10 IL6 TNF
15 11.8 HLA-DRB1 IL6 TNF
16 11.78 IFNG IL10 IL6
17
Show member pathways
11.76 HSPD1 HSPG2 IFNG IL6 TNF
18 11.74 IFNG IL10 IL6 TNF
19 11.73 BMPR2 IFNG TNF
20 11.71 IFNG IL10 TNF
21 11.69 HLA-DRB1 IFNG IL6 TNF
22 11.69 HLA-DRB1 HSPD1 IFNG IL10 IL6 TNF
23 11.68 IL10 IL6 TNF
24
Show member pathways
11.58 IFNG IL6 TNF
25 11.57 IFNG IL10 IL6 TNF
26 11.52 IFNG IL10 IL6 TNF
27 11.51 HSPD1 IL6 TNF
28 11.48 IFNG IL6 TNF
29 11.45 IL10 IL6 TNF
30 11.4 IFNG IL6 TNF
31 11.31 IFNG IL10 IL6 TNF
32 11.27 IL10 IL6 TNF
33 11.22 IFNG IL6 TNF
34 11.01 IL6 TNF
35 11 IFNG IL10 IL6 TNF
36 10.94 IL6 TNF
37 10.48 HLA-DRB1 IFNG IL10 IL6 TNF

GO Terms for Mixed Connective Tissue Disease

Cellular components related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 ADAMTS13 APOH HSPG2 IFNG IL10 IL6
2 extracellular space GO:0005615 9.61 ADAMTS13 APOH BMPR2 HSPD1 HSPG2 IFNG
3 cell surface GO:0009986 9.17 ACVRL1 ADAMTS13 APOH BMPR2 HLA-DRB1 HSPD1

Biological processes related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.96 IFNG IL10 IL6 TNF
2 inflammatory response GO:0006954 9.93 HSPG2 IL10 IL6 TNF
3 immune response GO:0006955 9.88 HLA-DRB1 IFNG IL10 IL6 TNF
4 positive regulation of DNA-binding transcription factor activity GO:0051091 9.78 IL10 IL6 TNF
5 response to organic substance GO:0010033 9.76 HSPD1 IL10 TNF
6 positive regulation of endothelial cell proliferation GO:0001938 9.72 ACVRL1 BMPR2 IL10
7 cellular response to lipopolysaccharide GO:0071222 9.71 ADAMTS13 IL10 IL6 TNF
8 protein import into nucleus, translocation GO:0000060 9.67 IFNG TNF
9 positive regulation of interleukin-6 production GO:0032755 9.67 HSPD1 IL6 TNF
10 negative regulation of endothelial cell migration GO:0010596 9.66 ACVRL1 APOH
11 positive regulation of osteoclast differentiation GO:0045672 9.65 IFNG TNF
12 positive regulation of chemokine production GO:0032722 9.65 IL6 TNF
13 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.65 ACVRL1 BMPR2
14 activin receptor signaling pathway GO:0032924 9.64 ACVRL1 BMPR2
15 positive regulation of glial cell proliferation GO:0060252 9.64 IL6 TNF
16 positive regulation of macrophage activation GO:0043032 9.63 HSPD1 IL10
17 humoral immune response GO:0006959 9.63 IFNG IL6 TNF
18 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.62 IFNG TNF
19 negative regulation of growth of symbiont in host GO:0044130 9.62 IL10 TNF
20 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.61 IL10 TNF
21 negative regulation of DNA biosynthetic process GO:2000279 9.6 ACVRL1 BMPR2
22 lymphangiogenesis GO:0001946 9.59 ACVRL1 BMPR2
23 negative regulation of lipid storage GO:0010888 9.58 IL6 TNF
24 artery development GO:0060840 9.57 ACVRL1 BMPR2
25 retina vasculature development in camera-type eye GO:0061298 9.56 ACVRL1 BMPR2
26 lymphatic endothelial cell differentiation GO:0060836 9.54 ACVRL1 BMPR2
27 negative regulation of cytokine secretion involved in immune response GO:0002740 9.52 IL10 TNF
28 positive regulation of neuroinflammatory response GO:0150078 9.51 IL6 TNF
29 venous blood vessel development GO:0060841 9.43 ACVRL1 BMPR2
30 negative regulation of endothelial cell proliferation GO:0001937 9.43 ACVRL1 APOH TNF
31 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.37 IFNG TNF
32 receptor biosynthetic process GO:0032800 9.32 IL10 TNF
33 response to glucocorticoid GO:0051384 9.26 HSPD1 IL10 IL6 TNF
34 positive regulation of vitamin D biosynthetic process GO:0060557 9.16 IFNG TNF
35 endothelial cell apoptotic process GO:0072577 8.8 BMPR2 IL10 TNF

Molecular functions related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta-activated receptor activity GO:0005024 9.26 ACVRL1 BMPR2
2 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 ACVRL1 BMPR2
3 BMP receptor activity GO:0098821 8.96 ACVRL1 BMPR2
4 cytokine activity GO:0005125 8.92 IFNG IL10 IL6 TNF

Sources for Mixed Connective Tissue Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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